Complement Gene Mutation and Ehlers-Danlos Syndrome  

作　　者：Golder N. Wilson Sahil S. Tonk Vijay S. Tonk Richard Lampe Golder N. Wilson;Sahil S. Tonk;Vijay S. Tonk;Richard Lampe(Department of Pediatrics, Lubbock, USA;Departments of Pediatrics and Internal Medicine, Lubbock, USA;Departments of Pediatrics, Obstetrics & Gynecology, and Pathology, Lubbock, USA;Deparment of Pediatrics, Infectious Disease Division, Texas Tech University Health Science Center, Lubbock, USA)

机构地区：[1]Department of Pediatrics, Lubbock, USA [2]Departments of Pediatrics and Internal Medicine, Lubbock, USA [3]Departments of Pediatrics, Obstetrics & Gynecology, and Pathology, Lubbock, USA [4]Deparment of Pediatrics, Infectious Disease Division, Texas Tech University Health Science Center, Lubbock, USA

出　　处：《Journal of Biosciences and Medicines》2020年第6期28-36,共9页生物科学与医学（英文）

摘　　要：<strong>Background:</strong><span><span style="font-family:Verdana;"> Dental complications of Ehlers-Danlos syndrome (EDS) include periodontitis with gum fragility and inflammation, enamel hypoplasia with frequent caries, high palate with dental crowding, TMJ instability, sutur</span><span><span style="font-family:Verdana;">al dehiscence or scarring, and insensitivity to anesthetics. </span><b><span style="font-family:Verdana;">Objective:</span></b><span style="font-family:Verdana;"> Determine if EDS dental complications always define a specific type and genetic cause or if they can arise as a general consequence of altered inflammatory response in EDS. </span><b><span style="font-family:Verdana;">Method:</span></b><span style="font-family:Verdana;"> We compared findings of a 58-year-old female</span></span><span style="font-family:Verdana;"> with complement component 1R (C1R</span><span style="font-family:Verdana;">) </span><span style="font-family:Verdana;">gene mutation (c.1553A > T, p.Asp518Val) </span><span><span style="font-family:Verdana;">found by whole exome sequencing to 43 patients with C1R gene mutations ascertained because of periodontal disease and to 710 EDS patients conventially ascertained because of joint and skin laxity. </span><b><span style="font-family:Verdana;">Result:</span></b><span style="font-family:Verdana;"> Female patients ascertained as periodontal EDS showed the expected higher frequency of periodontitis (96% versus 14%) but had similar frequencies of hypermobility (81% versus 90%) and some skin findings (84% versus 92% with skin fragility) as the general group and our female patient who shared their </span><span style="font-family:Verdana;">C1R</span><span style="font-family:Verdana;"> gene change. Her oromandibular bone loss rather than gum dis</span></span><span><span style="font-family:Verdana;">ease may reflect the more carboxy-terminal position of her </span><span style="font-family:Verdana;"><span style="font-family:Verdana;">C</span></span></span></span><span style="font-fa<strong>Background:</strong><span><span style="font-family:Verdana;"> Dental complications of Ehlers-Danlos syndrome (EDS) include periodontitis with gum fragility and inflammation, enamel hypoplasia with frequent caries, high palate with dental crowding, TMJ instability, sutur</span><span><span style="font-family:Verdana;">al dehiscence or scarring, and insensitivity to anesthetics. </span><b><span style="font-family:Verdana;">Objective:</span></b><span style="font-family:Verdana;"> Determine if EDS dental complications always define a specific type and genetic cause or if they can arise as a general consequence of altered inflammatory response in EDS. </span><b><span style="font-family:Verdana;">Method:</span></b><span style="font-family:Verdana;"> We compared findings of a 58-year-old female</span></span><span style="font-family:Verdana;"> with complement component 1R (C1R</span><span style="font-family:Verdana;">) </span><span style="font-family:Verdana;">gene mutation (c.1553A > T, p.Asp518Val) </span><span><span style="font-family:Verdana;">found by whole exome sequencing to 43 patients with C1R gene mutations ascertained because of periodontal disease and to 710 EDS patients conventially ascertained because of joint and skin laxity. </span><b><span style="font-family:Verdana;">Result:</span></b><span style="font-family:Verdana;"> Female patients ascertained as periodontal EDS showed the expected higher frequency of periodontitis (96% versus 14%) but had similar frequencies of hypermobility (81% versus 90%) and some skin findings (84% versus 92% with skin fragility) as the general group and our female patient who shared their </span><span style="font-family:Verdana;">C1R</span><span style="font-family:Verdana;"> gene change. Her oromandibular bone loss rather than gum dis</span></span><span><span style="font-family:Verdana;">ease may reflect the more carboxy-terminal position of her </span><span style="font-family:Verdana;"><span style="font-family:Verdana;">C</span></span></span></span><span style="font-fa

关 键 词：Ehlers-Danlos Syndrome PERIODONTITIS Complement Component 1R Gene Mutations Arthritis-Adrenaline Disorder Whole Exome Sequencing 

分 类 号：R78[医药卫生—口腔医学]